Phenotype #0000355437

Individual ID 00470288
Associated disease NDD
Diagnosis/Initial neurodevelopmental disorder
Diagnosis/Definite MRD21
Phenotype details see paper; ..., no prenatal growth anomalies; birth 37w2d; normal birth weight; 9m-sit; 19m-walk; 24m-first word; 32m-first sentence; 2m-failure to thrive; motor delay; speech delay; ADHD, tantrum, emotional regulation anxiety; no autism; intellectual disability, developmental delay; no seizures; hypotonia; sleep problems, wakes frequently and is an early riser; special education; feeding difficulties/failure to thrive; GERD; no hearing loss; pseudostrabismus; no cleft palate/no palatal anomalies; no cardiac defect; no urogenital anomalies; no musculoskeletal anomalies; no plagiocephaly; no single palmar crease; no integumentary; severe hypdontia, missing 16 permanent teeth uneven enamel, discoloration; no recurrent infections
Inheritance Isolated (sporadic)
Age/Examination 10y (10 years)
Age/Diagnosis -
Age/Onset 2m
Phenotype/Onset -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2025-11-30 10:24:36 +01:00 (CET)
Date last edited N/A

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